MCID: RTN220
MIFTS: 21

Retinal Ciliopathy

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Retinal Ciliopathy

MalaCards integrated aliases for Retinal Ciliopathy:

Name: Retinal Ciliopathy 59

Classifications:



External Ids:

Orphanet 59 ORPHA156165

Summaries for Retinal Ciliopathy

MalaCards based summary : Retinal Ciliopathy is related to laurence-moon syndrome and cone-rod dystrophy 2. An important gene associated with Retinal Ciliopathy is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include retina, and related phenotypes are nervous system and vision/eye

Related Diseases for Retinal Ciliopathy

Diseases in the Retinal Ciliopathy family:

Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene Retinal Ciliopathy Due to Mutation in the Rpgr Gene
Retinal Ciliopathy Due to Mutation in the Rpgrip Gene Retinal Ciliopathy Due to Mutation in Usher Gene

Diseases related to Retinal Ciliopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 laurence-moon syndrome 30.3 RPGRIP1 RPGR
2 cone-rod dystrophy 2 30.2 RPGRIP1 RPGR IQCB1
3 retinal disease 30.2 RPGRIP1 RPGR CEP290
4 yemenite deaf-blind hypopigmentation syndrome 30.1 RPGR CEP290
5 leber congenital amaurosis 3 30.1 SPATA7 RPGRIP1
6 senior-loken syndrome 1 29.5 RPGR IQCB1 IFT140 CEP290
7 nephronophthisis 29.0 RPGRIP1 RPGR IQCB1 INPP5E CEP290
8 leber congenital amaurosis 28.8 SPATA7 RPGRIP1 RPGR IQCB1 IFT140 CEP290
9 fundus dystrophy 27.7 SPATA7 RPGRIP1 RPGR IQCB1 INPP5E IFT140
10 joubert syndrome 1 26.8 RPGRIP1 RPGR POC1B PDE6D IQCB1 INPP5E
11 retinitis pigmentosa 26.5 SPATA7 RPGRIP1 RPGR POC1B PDE6D LOC105371046
12 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 12.4
13 retinal ciliopathy due to mutation in nephronophthisis gene 12.3
14 retinal ciliopathy due to mutation in bardet-biedl gene 12.3
15 retinal ciliopathy due to mutation in the rpgr gene 12.3
16 retinal ciliopathy due to mutation in the rpgrip gene 12.3
17 retinal ciliopathy due to mutation in usher gene 12.3
18 ciliopathy 10.5
19 joubert syndrome with jeune asphyxiating thoracic dystrophy 10.5 LOC105371046 IFT140
20 retinitis pigmentosa 80 10.5 LOC105371046 IFT140
21 neuroretinitis 10.4
22 retinitis 10.4
23 retinal degeneration 10.4
24 orofaciodigital syndrome i 10.3 RPGR CEP290
25 simpson-golabi-behmel syndrome, type 2 10.3 RPGR CEP290
26 leber congenital amaurosis 10 10.2 IQCB1 CEP290
27 retinitis pigmentosa-deafness syndrome 10.2
28 macular degeneration, age-related, 1 10.2
29 usher syndrome 10.2
30 bardet-biedl syndrome 10.2
31 retinal aplasia 10.1 IQCB1 CEP290
32 renal dysplasia 10.1 IFT140 CEP290
33 cone dystrophy 10.1
34 hereditary retinal dystrophy 10.1 SPATA7 CEP290
35 nephronophthisis 16 10.1 IQCB1 CEP290
36 nephronophthisis 11 10.0 IQCB1 CEP290
37 huntington disease 9.9
38 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.9
39 retinitis pigmentosa 1 9.9
40 short-rib thoracic dysplasia 1 with or without polydactyly 9.9
41 cranioectodermal dysplasia 1 9.9
42 mckusick-kaufman syndrome 9.9
43 usher syndrome, type i 9.9
44 alacrima, achalasia, and mental retardation syndrome 9.9
45 cone-rod dystrophy 20 9.9
46 exudative vitreoretinopathy 9.9
47 polycystic kidney disease 9.9
48 situs inversus 9.9
49 primary ciliary dyskinesia 9.9
50 congenital hepatic fibrosis 9.9

Graphical network of the top 20 diseases related to Retinal Ciliopathy:



Diseases related to Retinal Ciliopathy

Symptoms & Phenotypes for Retinal Ciliopathy

MGI Mouse Phenotypes related to Retinal Ciliopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CEP290 IFT140 INPP5E PDE6D RPGR RPGRIP1
2 vision/eye MP:0005391 9.17 CEP290 IFT140 INPP5E PDE6D RPGR RPGRIP1

Drugs & Therapeutics for Retinal Ciliopathy

Search Clinical Trials , NIH Clinical Center for Retinal Ciliopathy

Genetic Tests for Retinal Ciliopathy

Anatomical Context for Retinal Ciliopathy

MalaCards organs/tissues related to Retinal Ciliopathy:

41
Retina

Publications for Retinal Ciliopathy

Articles related to Retinal Ciliopathy:

(show all 22)
# Title Authors PMID Year
1
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa. 38
31061086 2019
2
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. 38
31253780 2019
3
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? 38
31091803 2019
4
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies. 38
31024622 2019
5
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. 38
30967900 2019
6
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. 38
30242358 2018
7
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. 38
28785766 2017
8
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. 38
28172980 2016
9
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies. 38
27911706 2016
10
RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. 38
27493202 2016
11
Stem cells with a view: a look inside a retinal ciliopathy. 38
27868044 2016
12
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. 38
26294103 2015
13
Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish. 38
26188096 2015
14
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice. 38
25989602 2015
15
Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. 38
26068394 2015
16
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. 38
25398945 2015
17
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. 38
24722439 2014
18
Mutation of POC1B in a severe syndromic retinal ciliopathy. 38
25044745 2014
19
Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse. 38
25125607 2014
20
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. 38
22940612 2012
21
Non-syndromic retinal ciliopathies: translating gene discovery into therapy. 38
22843501 2012
22
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 38
21245082 2011

Variations for Retinal Ciliopathy

Expression for Retinal Ciliopathy

Search GEO for disease gene expression data for Retinal Ciliopathy.

Pathways for Retinal Ciliopathy

Pathways related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 PDE6D IQCB1 INPP5E IFT140 CEP290

GO Terms for Retinal Ciliopathy

Cellular components related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.8 RPGR POC1B IQCB1 IFT140 CEP290
2 cilium GO:0005929 9.8 RPGRIP1 RPGR PDE6D INPP5E IFT140 CEP290
3 microtubule organizing center GO:0005815 9.76 RPGR IQCB1 IFT140 CEP290
4 cell projection GO:0042995 9.76 SPATA7 RPGRIP1 RPGR POC1B PDE6D INPP5E
5 axoneme GO:0005930 9.67 SPATA7 RPGRIP1 INPP5E IFT140
6 centriole GO:0005814 9.65 POC1B IQCB1 CEP290
7 ciliary basal body GO:0036064 9.65 SPATA7 RPGR POC1B IFT140 CEP290
8 photoreceptor outer segment GO:0001750 9.61 RPGR IQCB1 IFT140
9 cytoskeleton GO:0005856 9.61 SPATA7 RPGR POC1B PDE6D KIF11 IQCB1
10 mitotic spindle GO:0072686 9.52 KIF11 IQCB1
11 non-motile cilium GO:0097730 9.49 RPGRIP1 IFT140
12 photoreceptor connecting cilium GO:0032391 9.02 SPATA7 RPGRIP1 IQCB1 IFT140 CEP290
13 cytoplasm GO:0005737 10.16 SPATA7 RPGR POC1B PDE6D KIF11 IQCB1

Biological processes related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 SPATA7 RPGRIP1 RPGR PDE6D
2 visual perception GO:0007601 9.46 SPATA7 RPGRIP1 RPGR PDE6D
3 retina development in camera-type eye GO:0060041 9.43 RPGRIP1 IFT140
4 photoreceptor cell maintenance GO:0045494 9.4 SPATA7 IQCB1
5 cilium assembly GO:0060271 9.35 RPGR POC1B IQCB1 IFT140 CEP290
6 intraciliary transport GO:0042073 9.32 RPGR IFT140
7 eye photoreceptor cell development GO:0042462 9.26 RPGRIP1 CEP290
8 cell projection organization GO:0030030 9.02 RPGR POC1B IQCB1 IFT140 CEP290

Sources for Retinal Ciliopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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